"clinvar_pmc"[Filter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929093, LOC129929110 +282 more	Copy number loss	See cases	GPathogenic
Select item 146981	GRCh38/hg38 1p36.33(chr1:629055-714368)x1	LOC121967041, MIR12136 +1 more	Copy number loss	See cases	GBenign
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152695	GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	ACAP3, AGRN +254 more	Copy number loss	See cases	GPathogenic
Select item 152675	GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	LOC129929104, LOC129929105 +249 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 151110	GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	ACAP3, AGRN +243 more	Copy number loss	See cases	GPathogenic
Select item 150995	GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	ACAP3, ACTRT2 +275 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 148829	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	ACAP3, AGRN +238 more	Copy number gain	See cases	GUncertain significance
Select item 148825	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	ACAP3, AGRN +238 more	Copy number loss	See cases	GPathogenic
Select item 148486	GRCh38/hg38 1p36.33(chr1:821713-1223352)x1	AGRN, C1orf159 +74 more	Copy number loss	See cases	GUncertain significance
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 58038	GRCh38/hg38 1p36.33(chr1:832679-1254039)x3	AGRN, B3GALT6 +75 more	Copy number gain	See cases	GPathogenic
Select item 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +244 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58292	GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	ACAP3, AGRN +205 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57201	GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	LOC129929161, LOC129929162 +252 more	Copy number loss	See cases	GPathogenic
Select item 57120	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	LOC129929114, LOC129929115 +244 more	Copy number loss	See cases	GPathogenic
Select item 57052	GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	ACAP3, ACTRT2 +270 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 149739	GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	ACAP3, ACTRT2 +260 more	Copy number loss	See cases	GPathogenic
Select item 145395	GRCh38/hg38 1p36.33(chr1:844353-911241)x3	FAM41C, LINC01128 +2 more	Copy number gain	See cases	GBenign
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 145356	GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	ACAP3, ACTRT2 +274 more	Copy number loss	See cases	GPathogenic
Select item 144576	GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	ACAP3, AGRN +234 more	Copy number loss	See cases	GPathogenic
Select item 58293	GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	ACAP3, AGRN +237 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 147022	GRCh38/hg38 1p36.33(chr1:859245-911327)x3	FAM41C, LINC01128 +2 more	Copy number gain	See cases	GBenign
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58316	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	ACAP3, AGRN +246 more	Copy number loss	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 58313	GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	LOC126805582, LOC129388419 +253 more	Copy number loss	See cases	GPathogenic
Select item 58312	GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	ACAP3, AGRN +198 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154687	GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	ACAP3, AGRN +247 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 145558	GRCh38/hg38 1p36.33(chr1:911300-955624)x1	LINC02593, LOC107985728 +5 more	Copy number loss	See cases	GUncertain significance
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 57488	GRCh38/hg38 1p36.33(chr1:911300-1084417)x3	LINC02593, LOC100288175 +38 more	Copy number gain	See cases	GUncertain significance
Select item 155157	GRCh38/hg38 1p36.33(chr1:914086-1613769)x1	ACAP3, AGRN +146 more	Copy number loss	See cases	GPathogenic
Select item 154003	GRCh38/hg38 1p36.33(chr1:914086-1538895)x1	ACAP3, AGRN +136 more	Copy number loss	See cases	GLikely pathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +277 more	Copy number loss	See cases	GPathogenic
Select item 152333	GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	ACAP3, ACTRT2 +264 more	Copy number loss	See cases	GPathogenic
Select item 152331	GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	LOC129929169, LOC129929170 +231 more	Copy number loss	See cases	GPathogenic
Select item 1924157	NM_001385641.1(SAMD11):c.542C>G (p.Ser181Cys)	SAMD11 (S181C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019397	NM_001385641.1(SAMD11):c.548G>A (p.Gly183Glu)	SAMD11 (G183E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1543320	NM_001385641.1(SAMD11):c.552C>T (p.Ile184=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069387	NM_001385641.1(SAMD11):c.557A>T (p.Gln186Leu)	SAMD11 (Q186L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648427	NM_001385641.1(SAMD11):c.565C>T (p.Pro189Ser)	SAMD11 (P10S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1362713	NM_001385641.1(SAMD11):c.572T>C (p.Ile191Thr)	SAMD11 (I191T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1936488	NM_001385641.1(SAMD11):c.576C>T (p.Cys192=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568423	NM_001385641.1(SAMD11):c.582C>T (p.Cys194=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365270	NM_001385641.1(SAMD11):c.599C>T (p.Ser200Phe)	SAMD11 (S21F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632958	NM_001385641.1(SAMD11):c.606G>T (p.Pro202=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377425	NM_001385641.1(SAMD11):c.609+1G>A	SAMD11	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1979359	NM_001385641.1(SAMD11):c.609+5G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1555362	NM_001385641.1(SAMD11):c.609+12G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957935	NM_001385641.1(SAMD11):c.609+13G>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089674	NM_001385641.1(SAMD11):c.609+13G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561208	NM_001385641.1(SAMD11):c.609+14C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624593	NM_001385641.1(SAMD11):c.609+16C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3038970	NM_001385641.1(SAMD11):c.610-73GCCCCACCTTCCTCTCCTCCT[2]	SAMD11	Microsatellite (intron variant)	SAMD11-related disorder	GLikely benign
Select item 1541757	NM_001385641.1(SAMD11):c.610-19T>C	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658573	NM_001385641.1(SAMD11):c.610-13_610-11del	SAMD11	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1125147	NM_001385641.1(SAMD11):c.610-16C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1502618	NM_001385641.1(SAMD11):c.613C>T (p.Arg205Trp)	SAMD11 (R26W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547384	NM_001385641.1(SAMD11):c.618G>A (p.Gly206=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923853	NM_001385641.1(SAMD11):c.619C>T (p.Arg207Trp)	SAMD11 (R207W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164676	NM_001385641.1(SAMD11):c.620G>A (p.Arg207Gln)	SAMD11 (R207Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1365924	NM_001385641.1(SAMD11):c.641T>C (p.Val214Ala)	SAMD11 (V35A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1144630	NM_001385641.1(SAMD11):c.642C>T (p.Val214=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 846933	NM_001385641.1(SAMD11):c.643G>A (p.Ala215Thr)	SAMD11 (A36T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478180	NM_001385641.1(SAMD11):c.644C>T (p.Ala215Val)	SAMD11 (A36V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380424	NM_001385641.1(SAMD11):c.650C>G (p.Pro217Arg)	SAMD11 (P217R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354167	NM_001385641.1(SAMD11):c.650C>T (p.Pro217Leu)	SAMD11 (P38L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1095790	NM_001385641.1(SAMD11):c.654C>T (p.Ala218=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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